Whole-genome-sequencing: navigating the "Diagnostic Odyssey" in rare disease research

Rare diseases present a series of challenges on numerous fronts. From simply deciphering what a patient is affected by to considering how best to manage a rare condition with limited pre-existing medications available for a rare disease, each new development or breakthrough brings clinicians to a new question. While these conditions are, in isolation, rare; in total rare diseases impact 25-30million people in the USA alone.

Supported by Psomagen and featuring four fascinating guests from across the spectrum of topics and focuses in the rare disease space, this episode explores the updates to whole-genome sequencing technology that have improved the "Diagnostic Oddysey" experienced by some patients, enabled more accurate drug development and provides insight into the diagnosis and characterization of undefined rare diseases, before exploring the clinical impact whole-genome sequencing can have on clinical outcomes.

This episode features insight from four field-leading experts in rare disease research, whole-genome sequencing technologies and clinical practice for patients with rare diseases, including:

  • Alan Beggs: Director of The Manton Center for Orphan Disease Research, Sir Edwin and Lady Manton Professor of Pediatrics at Harvard medical school
  • Christine Stanley: Chief Director of Clinical Genomics at Variantyx
  • David Dimmock: Senior Medical Director of Rady Children's Institute for Genomic Medicine
  • Take Ogawa: Vice President, Sales & Marketing at Psomagen 


  1. Introduction: 00:00-02:30
  2. Defining the Diagnostic Oddysey: 02:30-06:20
  3. Rare disease discovery: 06:20-09:20
  4. Techniques involved in Rare disease discovery: 09:20-12:05
  5. Whole-genome sequencing updates impacting clinical diagnosis: 12:05-18:30
  6. Currently required improvements in techniques for rare disease research and management: 18:30-24:10
  7. Explaining long-read and short-read sequencing: 24:10-26:00
  8. Developing therapeutics for rare diseases: 26:00-30:00
  9. Whole-genome sequencing in animal model validation: 30:00-31:20
  10. Improving access to whole-genome available to researchers and clinicians: 31:20-33:40
  11. Whole-genome sequencing improving management and outcomes for rare diseases: 33:40-38:27

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